Annotation Detail
Information
- Associated Genes
- HBB LOC106099062 LOC107133510
- Associated Variants
-
HBB p.Glu7Ala (p.E7A)
(
ENST00000485743.1,
ENST00000335295.4,
ENST00000647020.1 )
HBB p.Glu7Ala (p.E7A) ( ENST00000335295.4, ENST00000485743.1, ENST00000647020.1 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_000518.4(HBB):c.20A>C (p.Glu7Ala) AND not specified
- ClinVar Allele ID
- 30214
- ClinVar RefSeq Alternation Syntax
- NM_000518.5:c.20A>C
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2023-05-08
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003234907
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs